Details

Autor(en) / Beteiligte

• Lozier, Ekaterina R
• Konovalov, Fedor A
• Kanivets, Ilya V
• Pyankov, Denis V
• Koshkin, Philip A
• Baleva, Larisa S
• Sipyagina, Alla E
• Yakusheva, Elena N
• Kuchina, Anastasiya E
• Korostelev, Sergey A

Titel

De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic features

Ist Teil von

• Journal of human genetics, 2018-07, Vol.63 (8), p.919-922

Ort / Verlag

England: Nature Publishing Group

Erscheinungsjahr

2018

Quelle

MEDLINE

Beschreibungen/Notizen

• Intellectual disability is the most common developmental disorder caused by chromosomal aberrations as well as single-nucleotide variants (SNVs) and small insertions/deletions (indels). Here we report identification of a novel, probably pathogenic mutation in the WHSC1 gene in a patient case with phenotype overlapping the features of Wolf-Hirschhorn syndrome. Deletions involving WHSC1 (Wolf-Hirschhorn syndrome candidate 1 gene) were described earlier in patients with Wolf-Hirschhorn syndrome. However, to our knowledge, single-point mutations in WHSC1 associated with any intellectual deficiency syndromes have not been reported. Using whole exome sequencing, we found a de novo nonsense mutation in WHSC1 (c.3412C>T, p.Arg1138Ter, NM_001042424.2) in patient with syndromic intellectual disability. This finding is challenging regarding a possible causative role of WHSC1 in intellectual disability syndromes, specifically Wolf-Hirschhorn syndrome. From the clinical standpoint, our finding suggests that next-generation sequencing along with chromosome microarray analysis (CMA) might be useful in genetic testing for patients with intellectual disability and dysmorphic features.